Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0262972 Acute dermatitis disease Skin and Connective Tissue Diseases Disease or Syndrome 3 2
C0017416 Genital Neoplasms, Female group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 12 4
C0268141 Xeroderma pigmentosum, group G disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 20 31
C0850639 premalignant lesion phenotype Neoplastic Process 20 5
C0221391 Melanosis coli disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 22 5
C0242006 Myelofibrosis due to another disorder disease Disease or Syndrome disease of anatomical entity; disease of cellular proliferation 23 6
C1333763 Gastric Cardia Carcinoma disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 24 13
C0025209 Melanosis disease Skin and Connective Tissue Diseases Disease or Syndrome 26 23
C0022593 Keratosis disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 43 10
C0699889 Malignant Female Reproductive System Neoplasm disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 47 5
C0948750 Salivary gland carcinoma disease Neoplasms; Stomatognathic Diseases Neoplastic Process 47 5
C2752147 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality genetic disease 69 82
C0268138 Xeroderma Pigmentosum, Complementation Group D disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 70 111
C0030186 Paget Disease Extramammary disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 79 1
C0016781 Fuchs Endothelial Dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome disease of anatomical entity 94 32
C0949059 Polyp of large intestine disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Neoplastic Process Abnormality of the digestive system; Neoplasm 99 32
C0001857 AIDS related complex disease Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 100 43
C0016034 Breast Fibrocystic Disease disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity; disease of cellular proliferation 114 12
C0085695 Chronic gastritis disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 114 11
C0029401 Osteitis Deformans disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 134 58
C0699893 Skin carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 136 24
C0238301 Cancer of Nasopharynx disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 145 12
C0040137 Thyroid Nodule disease Neoplasms; Endocrine System Diseases Neoplastic Process Abnormality of the endocrine system 150 17
C0280313 Squamous cell carcinoma of oropharynx disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process Abnormality of the integument; Neoplasm 155 33
C4722172 Primary differentiated carcinoma of thyroid gland disease Neoplastic Process 167 41